Showing results (61-70 of 68) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 68 results.
Nature Communications|October 14, 2017
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceKashyap A Patel, Jarno Kettunen, Markku Laakso, et al.
American Journal of Human Genetics|September 10, 2020
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical InterpretationSara Althari, Laeya A Najmi, Amanda J Bennett, et al.
The Journal of Clinical Endocrinology and Metabolism|August 1, 2025
Children with diabetes and at least one non-autoimmune feature should be considered for monogenic diabetes testingRebecca Myers, Melek Yildiz, Mehmet Nuri Ozbek, et al.
Diabetologia|October 23, 2021
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinicsKashyap A Patel, Mehmet N Ozbek, Melek Yildiz, et al.
Neurobiology of Disease|November 5, 2023
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI studyMarco Toffoli, Harneek Chohan, Stephen Mullin, et al.
EMBO Molecular Medicine|January 3, 2026
A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population dataYue Tong, Marianne Becker, Ulrike Schierloh, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2026
Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiationDonato Iacovazzo, Federica Begalli, Oniz Suleyman, et al.
Nature Medicine|October 4, 2023
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicineDeirdre K Tobias, Jordi Merino, Abrar Ahmad, et al.
Pageof 7